Hermansky‐Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations

摘要

Abstract Hermansky‐Pudlak syndrome ( HPS ) is a rare autosomal recessive disorder caused by mutations in one of nine genes involved in the packaging and formation of specialized lysosomes, including melanosomes and platelet‐dense granules. The cardinal features are pigmentary dilution, bleeding diathesis, and accumulation of ceroid‐like material in reticuloendothelial cells. Pulmonary fibrosis induced by tissue damage is seen in the most severe forms, and one subtype is characterized by immunodeficiency. We describe two patients with HPS type 1 and review the updated gene‐based classification, clinical features, and recommendations for evaluation and follow‐up.